M2K (p.Met2Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
M2K (p.Met2Lys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M2K (p.Met2Lys) variant details
- p.Met2Lys
- gnomAD 2-188974494-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.48
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available