L38V (p.Leu38Val) variant of ABCG5 (Q9H222)
L38V (p.Leu38Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- rs375829761
- ClinGen CA1636800
- ClinVar RCV000593479
- ClinVar RCV001867979
- Uncertain significance
- not specified; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 17.20
- PolyPhen-2 0.35
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00065)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)