S24R (p.Ser24Arg) variant of COMP (P49747)
S24R (p.Ser24Arg) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- ExAC rs777322430
- TOPMed rs777322430
- gnomAD rs777322430
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 2.23
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available