M2R (p.Met2Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
M2R (p.Met2Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M2R (p.Met2Arg) variant details
- p.Met2Arg
- gnomAD 2-188974494-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.53
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 6.4e-05)
- Structural context available
- Literature evidence available