A6T (p.Ala6Thr) variant of COL2A1 (Collagen alpha-1(II) chain)
A6T (p.Ala6Thr) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD rs1283945940
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.19
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available