G17A (p.Gly17Ala) variant of COMP (P49747)
G17A (p.Gly17Ala) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- Ensembl rs944149003
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.86
- PolyPhen-2 0.02
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available