S5P (p.Ser5Pro) variant of KCNA1 (Q09470)
S5P (p.Ser5Pro) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 12-4911391-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.35
- MetaLR 0.70
- MetaSVM 0.01
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available