S47T (p.Ser47Thr) variant of ATP1A1 (P05023)
S47T (p.Ser47Thr) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S47T (p.Ser47Thr) variant details
- p.Ser47Thr
- gnomAD 1-116384799-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.30
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the HGDP:SAN population (allele frequency 0.58)
- Structural context available
- Literature evidence available