P30A (p.Pro30Ala) variant of SLC25A20 (O43772)
P30A (p.Pro30Ala) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine acylcarnitine translocase deficiency; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- rs780569251
- ClinGen CA2387517
- cosmic curated COSV59804
- ClinVar RCV000701401
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.07
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency; See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0014)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)