T7A (p.Thr7Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
T7A (p.Thr7Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- gnomAD rs1323281545
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.29
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available