T21R (p.Thr21Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
T21R (p.Thr21Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T21R (p.Thr21Arg) variant details
- p.Thr21Arg
- NCI-TCGA Cosmic COSV1003
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.23
- CADD 5.65
- PolyPhen-2 0.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available