G11S (p.Gly11Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G11S (p.Gly11Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- cosmic curated COSV57860
- ESP rs370313574
- TOPMed rs370313574
- gnomAD rs370313574
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.35
- MetaLR 0.36
- MetaSVM -0.56
- CADD 17.70
- PolyPhen-2 0.34
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.7e-05)
- Structural context available