L51V (p.Leu51Val) variant of COMP (P49747)
L51V (p.Leu51Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD rs2055208145
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 22.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available