V140M (p.Val140Met) variant of ABCC4 (O15439)
V140M (p.Val140Met) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
V140M (p.Val140Met) variant details
- p.Val140Met
- TOPMed rs1260428787
- gnomAD rs1260428787
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 22.70
- PolyPhen-2 0.54
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)