R74L (p.Arg74Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
R74L (p.Arg74Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
R74L (p.Arg74Leu) variant details
- p.Arg74Leu
- rs137930367
- ClinGen CA10488382
- ClinVar RCV001769343
- ESP rs137930367
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.22
- MetaLR 0.61
- MetaSVM -0.38
- CADD 8.10
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available