R60W (p.Arg60Trp) variant of SLC25A20 (O43772)
R60W (p.Arg60Trp) 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 0.70 / 1. The record also includes population frequency data and structural context.
R60W (p.Arg60Trp) variant details
- p.Arg60Trp
- rs764319600
- ClinGen CA2387484
- ClinVar RCV003332702
- ExAC rs764319600
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.70
- MetaLR 0.68
- MetaSVM 0.44
- CADD 29.30
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available