V74I (p.Val74Ile) variant of PKD1 (Polycystin-1)
V74I (p.Val74Ile) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- rs1048339818
- ClinGen CA276784283
- ClinVar RCV003376394
- TOPMed rs1048339818
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0715
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.02
- CADD 0.16
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)