P93L (p.Pro93Leu) variant of COMP (P49747)
P93L (p.Pro93Leu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P93L (p.Pro93Leu) variant details
- p.Pro93Leu
- TOPMed rs2055200895
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.53
- ESM-1b 0.98
- AlphaMissense 0.12
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available