R50T (p.Arg50Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
R50T (p.Arg50Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R50T (p.Arg50Thr) variant details
- p.Arg50Thr
- gnomAD rs1261294446
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.54
- CADD 24.00
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available