A14T (p.Ala14Thr) variant of COMP (P49747)
A14T (p.Ala14Thr) in COMP (P49747) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- TOPMed rs1232516283
- gnomAD rs1232516283
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 12.70
- PolyPhen-2 0.06
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available