T99M (p.Thr99Met) variant of ABCC4 (O15439)
T99M (p.Thr99Met) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
T99M (p.Thr99Met) variant details
- p.Thr99Met
- cosmic curated COSV65318
- ESP rs149058757
- ExAC rs149058757
- TOPMed rs149058757
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 22.30
- PolyPhen-2 0.22
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 4.8e-05)