V31L (p.Val31Leu) variant of HSD17B3 (P37058)
V31L (p.Val31Leu) in HSD17B3 (P37058) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V31L (p.Val31Leu) variant details
- p.Val31Leu
- 1000Genomes rs2066480
- ESP rs2066480
- ExAC rs2066480
- TOPMed rs2066480
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -0.72
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in dbSNP:rs2066480)
- UniProt: Benign (in dbSNP:rs2066480)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available