T21I (p.Thr21Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
T21I (p.Thr21Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs375761728
- ClinGen CA975581
- ClinVar RCV003550958
- ESP rs375761728
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available