T62R (p.Thr62Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
T62R (p.Thr62Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T62R (p.Thr62Arg) variant details
- p.Thr62Arg
- rs746264058
- ClinGen CA975534
- ClinVar RCV003854260
- ExAC rs746264058
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.29
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available