A44V (p.Ala44Val) variant of COMP (P49747)
A44V (p.Ala44Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD rs1400824348
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available