P19S (p.Pro19Ser) variant of KCNA1 (Q09470)
P19S (p.Pro19Ser) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- gnomAD 12-4911433-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.43
- MetaLR 0.76
- MetaSVM 0.45
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available