M43T (p.Met43Thr) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
M43T (p.Met43Thr) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
M43T (p.Met43Thr) variant details
- p.Met43Thr
- gnomAD 2-233760415-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.28
- CADD 16.40
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available