D4Y (p.Asp4Tyr) variant of COMP (P49747)
D4Y (p.Asp4Tyr) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D4Y (p.Asp4Tyr) variant details
- p.Asp4Tyr
- gnomAD rs1262053428
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 5.84
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available