M82T (p.Met82Thr) variant of ABCG5 (Q9H222)
M82T (p.Met82Thr) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
M82T (p.Met82Thr) variant details
- p.Met82Thr
- ExAC rs756224121
- gnomAD rs756224121
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.66
- CADD 21.90
- PolyPhen-2 0.34
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available