H76Y (p.His76Tyr) variant of PKD1 (Polycystin-1)
H76Y (p.His76Tyr) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H76Y (p.His76Tyr) variant details
- p.His76Tyr
- rs932577597
- ClinGen CA276784281
- cosmic curated COSV51917
- ClinVar RCV000626721
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.05
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)