P138A (p.Pro138Ala) variant of COMP (P49747)
P138A (p.Pro138Ala) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P138A (p.Pro138Ala) variant details
- p.Pro138Ala
- rs763966726
- ClinGen CA9316727
- ClinVar RCV002092174
- ExAC rs763966726
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.70
- PolyPhen-2 0.59
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available