R42T (p.Arg42Thr) variant of COL3A1 (Collagen alpha-1(III) chain)
R42T (p.Arg42Thr) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R42T (p.Arg42Thr) variant details
- p.Arg42Thr
- TOPMed rs1304206848
- gnomAD rs1304206848
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.29
- MetaLR 0.31
- MetaSVM -0.34
- CADD 23.90
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available