L17S (p.Leu17Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
L17S (p.Leu17Ser) 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.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- gnomAD 7-94395081-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.20
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available