V123I (p.Val123Ile) variant of C3 (Complement C3)
V123I (p.Val123Ile) 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 0.30 / 1. The record also includes structural context.
V123I (p.Val123Ile) variant details
- p.Val123Ile
- rs1265210034
- ClinVar RCV004585826
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.25
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.02
- SIFT 0.59
- EVE 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available