P230R (p.Pro230Arg) variant of SLC25A20 (O43772)
P230R (p.Pro230Arg) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P230R (p.Pro230Arg) variant details
- p.Pro230Arg
- gnomAD rs1327726845
- Likely pathogenic
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.83
- MetaLR 0.62
- MetaSVM 0.24
- CADD 27.90
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely pathogenic (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available