L25I (p.Leu25Ile) variant of COL1A2 (Collagen alpha-2(I) chain)
L25I (p.Leu25Ile) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L25I (p.Leu25Ile) variant details
- p.Leu25Ile
- gnomAD 7-94397750-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.23
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available