I43T (p.Ile43Thr) variant of COL4A5 (Collagen alpha-5(IV) chain)
I43T (p.Ile43Thr) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar 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 0.32 / 1. The record also includes population frequency data and structural context.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- NCI-TCGA Cosmic COSV6036
- NCI-TCGA Cosmic COSV6037
- cosmic curated COSV60373
- TOPMed rs2065509701
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.19
- MetaLR 0.55
- MetaSVM -0.46
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available