L10M (p.Leu10Met) variant of COL1A2 (Collagen alpha-2(I) chain)
L10M (p.Leu10Met) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- gnomAD 7-94395059-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.33
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available