A18V (p.Ala18Val) variant of KCNQ4 (P56696)
A18V (p.Ala18Val) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs1347676173
- ClinGen CA339884961
- ClinVar RCV003846644
- TOPMed rs1347676173
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.32
- MetaLR 0.76
- MetaSVM 0.28
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0005)
- Structural context available