R9T (p.Arg9Thr) variant of ABCG8 (Q9H221)
R9T (p.Arg9Thr) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R9T (p.Arg9Thr) variant details
- p.Arg9Thr
- gnomAD 2-43839079-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.11
- MetaLR 0.28
- MetaSVM -0.74
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available