M126V (p.Met126Val) variant of ABCC4 (O15439)
M126V (p.Met126Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
M126V (p.Met126Val) variant details
- p.Met126Val
- gnomAD rs1369848704
- Missense
- Variant Prioritization Score for Impact Estimate 0.0583
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)