T21N (p.Thr21Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
T21N (p.Thr21Asn) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T21N (p.Thr21Asn) variant details
- p.Thr21Asn
- ESP rs375761728
- ExAC rs375761728
- TOPMed rs375761728
- gnomAD rs375761728
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available