P13A (p.Pro13Ala) variant of KCNQ4 (P56696)
P13A (p.Pro13Ala) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P13A (p.Pro13Ala) variant details
- p.Pro13Ala
- TOPMed rs1647180417
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.37
- MetaLR 0.92
- MetaSVM 0.79
- CADD 23.00
- PolyPhen-2 0.81
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available