V171A (p.Val171Ala) variant of C5 (Complement C5)
V171A (p.Val171Ala) in C5 (Complement C5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V171A (p.Val171Ala) variant details
- p.Val171Ala
- 1000Genomes rs185695138
- ExAC rs185695138
- TOPMed rs185695138
- gnomAD rs185695138
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.51
- MetaLR 0.72
- MetaSVM 0.85
- CADD 23.70
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available