P5S (p.Pro5Ser) variant of KCNQ4 (P56696)
P5S (p.Pro5Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- TOPMed rs1427513839
- gnomAD rs1427513839
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.31
- MetaLR 0.81
- MetaSVM 0.60
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available