L130V (p.Leu130Val) variant of C3 (Complement C3)
L130V (p.Leu130Val) in C3 (Complement C3) 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 0.38 / 1. The record also includes population frequency data and structural context.
L130V (p.Leu130Val) variant details
- p.Leu130Val
- rs766237138
- ClinGen CA9129840
- ClinVar RCV002631208
- ExAC rs766237138
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.21
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available