T115N (p.Thr115Asn) variant of COL6A3 (Collagen alpha-3(VI) chain)
T115N (p.Thr115Asn) in COL6A3 (Collagen alpha-3(VI) 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 0.28 / 1. The record also includes population frequency data and structural context.
T115N (p.Thr115Asn) variant details
- p.Thr115Asn
- rs1243322338
- NCI-TCGA Cosmic COSV5509
- TOPMed rs1243322338
- gnomAD rs1243322338
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.88
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available