P10Q (p.Pro10Gln) variant of SLC25A20 (O43772)
P10Q (p.Pro10Gln) 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 0.56 / 1. The record also includes population frequency data and structural context.
P10Q (p.Pro10Gln) variant details
- p.Pro10Gln
- ESP rs376837831
- ExAC rs376837831
- TOPMed rs376837831
- gnomAD rs376837831
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.57
- MetaLR 0.59
- MetaSVM -0.00
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available