P147S (p.Pro147Ser) variant of COMP (P49747)
P147S (p.Pro147Ser) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P147S (p.Pro147Ser) variant details
- p.Pro147Ser
- cosmic curated COSV10454
- ExAC rs766383824
- TOPMed rs766383824
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.53
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available