H129L (p.His129Leu) variant of C5 (Complement C5)
H129L (p.His129Leu) 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 specified. 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.
H129L (p.His129Leu) variant details
- p.His129Leu
- rs774850483
- ClinGen CA374729547
- ClinVar RCV004180669
- ExAC rs774850483
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.36
- MetaLR 0.24
- MetaSVM -0.71
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available