T10K (p.Thr10Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
T10K (p.Thr10Lys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data and structural context.
T10K (p.Thr10Lys) variant details
- p.Thr10Lys
- rs1024598882
- ClinGen CA341159830
- ClinVar RCV002909563
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available