A81V (p.Ala81Val) variant of PKD1 (Polycystin-1)
A81V (p.Ala81Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- rs531570028
- ClinGen CA7833766
- ClinVar RCV003981761
- ClinVar RCV005419748
- Likely benign
- not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.05
- CADD 11.40
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Likely benign (not specified; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.036)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)