R7S (p.Arg7Ser) variant of KCNQ4 (P56696)
R7S (p.Arg7Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD 1-40784112-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.29
- MetaLR 0.83
- MetaSVM 0.35
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Literature evidence available