T145M (p.Thr145Met) variant of ABCC4 (O15439)
T145M (p.Thr145Met) 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.
T145M (p.Thr145Met) variant details
- p.Thr145Met
- cosmic curated COSV65312
- 1000Genomes rs149867748
- ESP rs149867748
- ExAC rs149867748
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 16.90
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the 1KG:GWD population (allele frequency 0.0043)