S12R (p.Ser12Arg) variant of SPTA1 (P02549)
S12R (p.Ser12Arg) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- ExAC rs776887942
- gnomAD rs776887942
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 17.10
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)