P32R (p.Pro32Arg) variant of COMP (P49747)
P32R (p.Pro32Arg) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- ExAC rs754279636
- TOPMed rs754279636
- gnomAD rs754279636
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.18
- ESM-1b 0.28
- AlphaMissense 0.07
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available