D53G (p.Asp53Gly) variant of SPTBN2 (O15020)
D53G (p.Asp53Gly) 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.
D53G (p.Asp53Gly) variant details
- p.Asp53Gly
- gnomAD rs1942127203
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.49
- CADD 29.30
- Most common in the African/African-American population (allele frequency 2.4e-05)