Q48R (p.Gln48Arg) variant of SLC25A20 (O43772)
Q48R (p.Gln48Arg) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- gnomAD rs1160197401
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.61
- CADD 22.20
- PolyPhen-2 0.32
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available