D171H (p.Asp171His) variant of SPTBN2 (O15020)
D171H (p.Asp171His) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
D171H (p.Asp171His) variant details
- p.Asp171His
- ExAC rs755741689
- gnomAD rs755741689
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.46
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)