A13S (p.Ala13Ser) variant of KCNQ5 (Q9NR82)
A13S (p.Ala13Ser) in KCNQ5 (Q9NR82) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- TOPMed rs933885701
- gnomAD rs933885701
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.35
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.79
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available