R74W (p.Arg74Trp) variant of COL4A5 (Collagen alpha-5(IV) chain)
R74W (p.Arg74Trp) 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 0.40 / 1. The record also includes population frequency data and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs1052281498
- ClinGen CA334177344
- NCI-TCGA Cosmic COSV6036
- cosmic curated COSV60366
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.36
- MetaLR 0.74
- MetaSVM 0.19
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available