R36L (p.Arg36Leu) variant of COMP (P49747)
R36L (p.Arg36Leu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- cosmic curated COSV55873
- TOPMed rs868740110
- gnomAD rs868740110
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.20
- PolyPhen-2 0.24
- SIFT 0.47
- Population evidence available
- Structural context available