L38V (p.Leu38Val) variant of APOA1 (Apolipoprotein A-I)
L38V (p.Leu38Val) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- rs745889664
- ClinGen CA382719410
- ClinVar RCV002695240
- ClinVar RCV005465787
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.02
- CADD 7.41
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available