M10V (p.Met10Val) variant of SMARCA2 (P51531)
M10V (p.Met10Val) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M10V (p.Met10Val) variant details
- p.Met10Val
- gnomAD rs1457819857
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.38
- AlphaMissense 0.18
- MetaLR 0.51
- MetaSVM -0.18
- CADD 22.50
- PolyPhen-2 0.02
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available