L11W (p.Leu11Trp) variant of COL1A2 (Collagen alpha-2(I) chain)
L11W (p.Leu11Trp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L11W (p.Leu11Trp) variant details
- p.Leu11Trp
- gnomAD 7-94395063-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available