R49G (p.Arg49Gly) variant of COMP (P49747)
R49G (p.Arg49Gly) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R49G (p.Arg49Gly) variant details
- p.Arg49Gly
- Ensembl rs1601060828
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 24.20
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available