T21I (p.Thr21Ile) variant of COL1A2 (Collagen alpha-2(I) chain)
T21I (p.Thr21Ile) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- cosmic curated COSV10512
- ExAC rs749148117
- gnomAD rs749148117
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.42
- CADD 22.90
- PolyPhen-2 0.30
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available