P113A (p.Pro113Ala) variant of COMP (P49747)
P113A (p.Pro113Ala) 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.
P113A (p.Pro113Ala) variant details
- p.Pro113Ala
- TOPMed rs1310810120
- gnomAD rs1310810120
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 22.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available