D138G (p.Asp138Gly) variant of C5 (Complement C5)
D138G (p.Asp138Gly) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D138G (p.Asp138Gly) variant details
- p.Asp138Gly
- TOPMed rs916475020
- gnomAD rs916475020
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -1.01
- CADD 23.50
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available