A21E (p.Ala21Glu) variant of KCNQ4 (P56696)
A21E (p.Ala21Glu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD rs1647180690
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- MetaLR 0.77
- MetaSVM 0.24
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available