M112V (p.Met112Val) variant of ABCC8 (Q09428)
M112V (p.Met112Val) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M112V (p.Met112Val) variant details
- p.Met112Val
- ExAC rs776487104
- gnomAD rs776487104
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.46
- AlphaMissense 0.45
- MetaLR 0.80
- MetaSVM 0.63
- CADD 19.40
- PolyPhen-2 0.61
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available