L16F (p.Leu16Phe) variant of COMP (P49747)
L16F (p.Leu16Phe) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- TOPMed rs1012124944
- gnomAD rs1012124944
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.24
- ESM-1b 0.16
- AlphaMissense 0.06
- CADD 13.20
- PolyPhen-2 0.11
- SIFT 0.45
- Population evidence available
- Structural context available