I103S (p.Ile103Ser) variant of PKD1 (Polycystin-1)
I103S (p.Ile103Ser) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I103S (p.Ile103Ser) variant details
- p.Ile103Ser
- ExAC rs775619020
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.52
- MetaLR 0.46
- MetaSVM 0.03
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available