M173V (p.Met173Val) variant of ABCC4 (O15439)
M173V (p.Met173Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
M173V (p.Met173Val) variant details
- p.Met173Val
- ExAC rs754312639
- gnomAD rs754312639
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 23.90
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)