N42S (p.Asn42Ser) variant of KCNA1 (Q09470)
N42S (p.Asn42Ser) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N42S (p.Asn42Ser) variant details
- p.Asn42Ser
- gnomAD 12-4911503-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.82
- MetaLR 0.83
- MetaSVM 0.89
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available