P6S (p.Pro6Ser) variant of KCNQ4 (P56696)
P6S (p.Pro6Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- gnomAD 1-40784109-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.26
- MetaLR 0.82
- MetaSVM 0.44
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 9.2e-05)
- Structural context available
- Literature evidence available