R165T (p.Arg165Thr) variant of ABCC4 (O15439)
R165T (p.Arg165Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
R165T (p.Arg165Thr) variant details
- p.Arg165Thr
- ExAC rs757377659
- TOPMed rs757377659
- gnomAD rs757377659
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 24.20
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)