A134V (p.Ala134Val) variant of PKD1 (Polycystin-1)
A134V (p.Ala134Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A134V (p.Ala134Val) variant details
- p.Ala134Val
- rs1296786347
- ClinGen CA394395615
- ClinVar RCV003977112
- ClinVar RCV005707282
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.10
- MetaLR 0.39
- MetaSVM -0.79
- CADD 6.88
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)