T105A (p.Thr105Ala) variant of COMP (P49747)
T105A (p.Thr105Ala) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T105A (p.Thr105Ala) variant details
- p.Thr105Ala
- gnomAD rs1463474729
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.25
- ESM-1b 0.21
- AlphaMissense 0.09
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available