P13S (p.Pro13Ser) variant of KCNQ4 (P56696)
P13S (p.Pro13Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- gnomAD 1-40784130-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.39
- MetaLR 0.93
- MetaSVM 0.84
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.04
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available