P41A (p.Pro41Ala) variant of PKD1 (Polycystin-1)
P41A (p.Pro41Ala) 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 0.23 / 1. The record also includes population frequency data and structural context.
P41A (p.Pro41Ala) variant details
- p.Pro41Ala
- TOPMed rs1318734922
- gnomAD rs1318734922
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.04
- CADD 18.60
- PolyPhen-2 1.00
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available