E46K (p.Glu46Lys) variant of COL4A5 (Collagen alpha-5(IV) chain)
E46K (p.Glu46Lys) in COL4A5 (Collagen alpha-5(IV) chain) 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 0.48 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs762399773
- ClinGen CA10488366
- ClinVar RCV003556461
- ExAC rs762399773
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.56
- AlphaMissense 0.15
- MetaLR 0.66
- MetaSVM 0.16
- CADD 16.40
- PolyPhen-2 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available