A71S (p.Ala71Ser) variant of PKD1 (Polycystin-1)
A71S (p.Ala71Ser) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A71S (p.Ala71Ser) variant details
- p.Ala71Ser
- TOPMed rs1423829809
- gnomAD rs1423829809
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.06
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available