S13R (p.Ser13Arg) variant of SPTA1 (P02549)
S13R (p.Ser13Arg) 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.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- ExAC rs771821343
- gnomAD rs771821343
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 16.30
- PolyPhen-2 0.29
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)