S24Y (p.Ser24Tyr) variant of COL1A2 (Collagen alpha-2(I) chain)
S24Y (p.Ser24Tyr) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S24Y (p.Ser24Tyr) variant details
- p.Ser24Tyr
- gnomAD 7-94397748-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.23
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available