T83I (p.Thr83Ile) variant of PCDH19 (Protocadherin-19)
T83I (p.Thr83Ile) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T83I (p.Thr83Ile) variant details
- p.Thr83Ile
- gnomAD rs1161661796
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.28
- CADD 26.10
- PolyPhen-2 0.86
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available