A94S (p.Ala94Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
A94S (p.Ala94Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A94S (p.Ala94Ser) variant details
- p.Ala94Ser
- ExAC rs768931460
- TOPMed rs768931460
- gnomAD rs768931460
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.26
- CADD 3.66
- PolyPhen-2 0.00
- SIFT 0.83
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available