S19F (p.Ser19Phe) variant of COMP (P49747)
S19F (p.Ser19Phe) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- TOPMed rs999536283
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available