L122R (p.Leu122Arg) variant of C3 (Complement C3)
L122R (p.Leu122Arg) 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 0.42 / 1. The record also includes structural context.
L122R (p.Leu122Arg) variant details
- p.Leu122Arg
- rs768598098
- ClinGen CA403645165
- ClinVar RCV001977836
- Ensembl rs768598098
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.31
- MetaLR 0.28
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available