C96R (p.Cys96Arg) variant of COMP (P49747)
C96R (p.Cys96Arg) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C96R (p.Cys96Arg) variant details
- p.Cys96Arg
- gnomAD rs1289527617
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available