S16T (p.Ser16Thr) variant of ATP1A1 (P05023)
S16T (p.Ser16Thr) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S16T (p.Ser16Thr) variant details
- p.Ser16Thr
- gnomAD rs111860221
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.35
- MetaLR 0.39
- MetaSVM -0.44
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available