R110H (p.Arg110His) variant of SPTBN2 (O15020)
R110H (p.Arg110His) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R110H (p.Arg110His) variant details
- p.Arg110His
- cosmic curated COSV10964
- ExAC rs778491140
- gnomAD rs778491140
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.37
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)