V119M (p.Val119Met) variant of SPTBN2 (O15020)
V119M (p.Val119Met) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
V119M (p.Val119Met) variant details
- p.Val119Met
- cosmic curated COSV10964
- ExAC rs760516394
- gnomAD rs760516394
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.46
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)