L52P (p.Leu52Pro) variant of COMP (P49747)
L52P (p.Leu52Pro) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L52P (p.Leu52Pro) variant details
- p.Leu52Pro
- Ensembl rs896909733
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 24.30
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available