H70L (p.His70Leu) variant of PCDH19 (Protocadherin-19)
H70L (p.His70Leu) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H70L (p.His70Leu) variant details
- p.His70Leu
- TOPMed rs1602638349
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.13
- CADD 22.30
- PolyPhen-2 0.32
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available