A61T (p.Ala61Thr) variant of MOG (Q16653)
A61T (p.Ala61Thr) in MOG (Q16653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- rs1294315820
- ClinGen CA363038929
- NCI-TCGA Cosmic COSV6532
- cosmic curated COSV65321
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.23
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available