D36G (p.Asp36Gly) variant of SPTBN2 (O15020)
D36G (p.Asp36Gly) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
D36G (p.Asp36Gly) variant details
- p.Asp36Gly
- ExAC rs765521246
- gnomAD rs765521246
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)