P16L (p.Pro16Leu) variant of KCNA1 (Q09470)
P16L (p.Pro16Leu) in KCNA1 (Q09470) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs1360223867
- gnomAD rs1360223867
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.39
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available