M2T (p.Met2Thr) variant of COL3A1 (Collagen alpha-1(III) chain)
M2T (p.Met2Thr) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- Ensembl rs1687765186
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.34
- MetaLR 0.48
- MetaSVM -0.35
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available