S12N (p.Ser12Asn) variant of SPTA1 (P02549)
S12N (p.Ser12Asn) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD rs1655097890
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 19.20
- PolyPhen-2 0.44
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)