T20R (p.Thr20Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
T20R (p.Thr20Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T20R (p.Thr20Arg) variant details
- p.Thr20Arg
- TOPMed rs1284115273
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 20.60
- PolyPhen-2 0.04
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available