P16A (p.Pro16Ala) variant of KCNA1 (Q09470)
P16A (p.Pro16Ala) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- gnomAD 12-4911424-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.33
- MetaLR 0.74
- MetaSVM 0.37
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available