A16T (p.Ala16Thr) variant of ABCC4 (O15439)
A16T (p.Ala16Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- TOPMed rs2041673786
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 26.20
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)