L4F (p.Leu4Phe) variant of PCDH19 (Protocadherin-19)
L4F (p.Leu4Phe) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- ExAC rs768501681
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.13
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available