V97M (p.Val97Met) variant of SPTBN2 (O15020)
V97M (p.Val97Met) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
V97M (p.Val97Met) variant details
- p.Val97Met
- TOPMed rs1401862278
- gnomAD rs1401862278
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.45
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)