M164V (p.Met164Val) variant of ABCC4 (O15439)
M164V (p.Met164Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
M164V (p.Met164Val) variant details
- p.Met164Val
- Ensembl rs1594350231
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)