S5T (p.Ser5Thr) variant of KCNA1 (Q09470)
S5T (p.Ser5Thr) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 12-4911391-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.31
- MetaLR 0.56
- MetaSVM -0.21
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available