S76A (p.Ser76Ala) variant of PCDH15 (Protocadherin-15)
S76A (p.Ser76Ala) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
S76A (p.Ser76Ala) variant details
- p.Ser76Ala
- TOPMed rs1222858474
- gnomAD rs1222858474
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- MetaLR 0.12
- MetaSVM -0.99
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)