L74V (p.Leu74Val) variant of ABCG5 (Q9H222)
L74V (p.Leu74Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L74V (p.Leu74Val) variant details
- p.Leu74Val
- rs775270938
- ClinGen CA1636745
- ClinVar RCV000733169
- ExAC rs775270938
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 15.60
- PolyPhen-2 0.27
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available