G17S (p.Gly17Ser) variant of COMP (P49747)
G17S (p.Gly17Ser) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- ExAC rs764174833
- gnomAD rs764174833
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 6.00
- PolyPhen-2 0.04
- SIFT 0.75
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available