G42A (p.Gly42Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
G42A (p.Gly42Ala) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
G42A (p.Gly42Ala) variant details
- p.Gly42Ala
- 1000Genomes rs767309553
- gnomAD rs767309553
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.36
- MetaLR 0.79
- MetaSVM 0.40
- CADD 21.50
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0076)
- Structural context available