A101T (p.Ala101Thr) variant of COMP (P49747)
A101T (p.Ala101Thr) in COMP (P49747) is a missense change. 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.
A101T (p.Ala101Thr) variant details
- p.Ala101Thr
- gnomAD rs1420502974
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available