R37Q (p.Arg37Gln) variant of SLC25A20 (O43772)
R37Q (p.Arg37Gln) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs371250509
- NCI-TCGA Cosmic COSV5980
- cosmic curated COSV59804
- ESP rs371250509
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.89
- MetaLR 0.73
- MetaSVM 0.62
- CADD 27.30
- PolyPhen-2 0.73
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available