R110C (p.Arg110Cys) variant of COMP (P49747)
R110C (p.Arg110Cys) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R110C (p.Arg110Cys) variant details
- p.Arg110Cys
- gnomAD rs1242795037
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 29.30
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available