A94T (p.Ala94Thr) variant of COL2A1 (Collagen alpha-1(II) chain)
A94T (p.Ala94Thr) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A94T (p.Ala94Thr) variant details
- p.Ala94Thr
- rs768931460
- ClinGen CA6536060
- ClinVar RCV001896702
- ExAC rs768931460
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.21
- CADD 7.42
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available