G21S (p.Gly21Ser) variant of SLC25A20 (O43772)
G21S (p.Gly21Ser) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs796052042
- ClinGen CA312987
- ClinVar RCV000186167
- Ensembl rs796052042
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.94
- MetaLR 0.79
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available