A22S (p.Ala22Ser) variant of KCNQ5 (Q9NR82)
A22S (p.Ala22Ser) in KCNQ5 (Q9NR82) 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 0.47 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- rs553979044
- ClinGen CA3886669
- ClinVar RCV003664527
- 1000Genomes rs553979044
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.44
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available