M2L (p.Met2Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
M2L (p.Met2Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- gnomAD 2-188974493-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.38
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available