V105I (p.Val105Ile) variant of PCDH19 (Protocadherin-19)
V105I (p.Val105Ile) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V105I (p.Val105Ile) variant details
- p.Val105Ile
- ExAC rs756745115
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.23
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available