Q25H (p.Gln25His) variant of SPTA1 (P02549)
Q25H (p.Gln25His) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
Q25H (p.Gln25His) variant details
- p.Gln25His
- cosmic curated COSV63751
- Ensembl rs2101958909
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 20.40
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)