M134R (p.Met134Arg) variant of HSD17B3 (P37058)
M134R (p.Met134Arg) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M134R (p.Met134Arg) variant details
- p.Met134Arg
- gnomAD rs1825407309
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.90
- MetaLR 0.72
- MetaSVM 0.52
- CADD 26.70
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available