A88V (p.Ala88Val) variant of PKD1 (Polycystin-1)
A88V (p.Ala88Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- rs958271752
- ClinGen CA276784272
- NCI-TCGA Cosmic COSV9923
- cosmic curated COSV99238
- Conflicting interpretations
- Inborn genetic diseases; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.03
- MetaLR 0.12
- MetaSVM -1.02
- CADD 4.84
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Polycystic kidney disease, adult type)
- EBI: Likely benign (in dbSNP:rs958271752)
- UniProt: Likely benign (in dbSNP:rs958271752)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. (PMID 11316854)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)