R36W (p.Arg36Trp) variant of COMP (P49747)
R36W (p.Arg36Trp) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R36W (p.Arg36Trp) variant details
- p.Arg36Trp
- TOPMed rs1211798835
- gnomAD rs1211798835
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available