D3N (p.Asp3Asn) variant of SLC25A20 (O43772)
D3N (p.Asp3Asn) in SLC25A20 (O43772) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs562426357
- 1000Genomes rs562426357
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.08
- MetaLR 0.27
- MetaSVM -0.71
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available