A25P (p.Ala25Pro) variant of KCNQ4 (P56696)
A25P (p.Ala25Pro) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- gnomAD 1-40784166-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- MetaLR 0.87
- MetaSVM 0.51
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available