A12S (p.Ala12Ser) variant of PCDH15 (Protocadherin-15)
A12S (p.Ala12Ser) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- cosmic curated COSV57307
- gnomAD rs1218529462
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- MetaLR 0.09
- MetaSVM -1.09
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)