S12G (p.Ser12Gly) variant of SPTA1 (P02549)
S12G (p.Ser12Gly) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- 1000Genomes rs141813438
- gnomAD rs141813438
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 25.10
- PolyPhen-2 0.52
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)