P3R (p.Pro3Arg) variant of COMP (P49747)
P3R (p.Pro3Arg) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- ExAC rs778579333
- gnomAD rs778579333
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 9.15
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 6e-05)
- Structural context available