A49G (p.Ala49Gly) variant of C5 (Complement C5)
A49G (p.Ala49Gly) in C5 (Complement C5) 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 0.18 / 1. The record also includes population frequency data and structural context.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- rs2047627115
- ClinGen CA374732661
- ClinVar RCV002031421
- Ensembl rs2047627115
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.04
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available