A12T (p.Ala12Thr) variant of PCDH15 (Protocadherin-15)
A12T (p.Ala12Thr) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD rs1218529462
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- MetaLR 0.11
- MetaSVM -1.04
- CADD 15.60
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)