Y101H (p.Tyr101His) variant of C5 (Complement C5)
Y101H (p.Tyr101His) 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 0.11 / 1. The record also includes population frequency data and structural context.
Y101H (p.Tyr101His) variant details
- p.Tyr101His
- rs1240046243
- ClinGen CA374730123
- ClinVar RCV001915778
- TOPMed rs1240046243
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -0.98
- CADD 5.58
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available