T65I (p.Thr65Ile) variant of PCDH15 (Protocadherin-15)
T65I (p.Thr65Ile) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
T65I (p.Thr65Ile) variant details
- p.Thr65Ile
- cosmic curated COSV57400
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.24
- MetaSVM -0.80
- CADD 22.20
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)