M170V (p.Met170Val) variant of ABCC4 (O15439)
M170V (p.Met170Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
M170V (p.Met170Val) variant details
- p.Met170Val
- ExAC rs753019077
- gnomAD rs753019077
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)