P3L (p.Pro3Leu) variant of COMP (P49747)
P3L (p.Pro3Leu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- ExAC rs778579333
- gnomAD rs778579333
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available