A27V (p.Ala27Val) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
A27V (p.Ala27Val) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs775463336
- gnomAD 2-233760364-ATGCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 25.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available