H139Y (p.His139Tyr) variant of SPTBN2 (O15020)
H139Y (p.His139Tyr) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
H139Y (p.His139Tyr) variant details
- p.His139Tyr
- ExAC rs772480880
- gnomAD rs772480880
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.88
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)