P30S (p.Pro30Ser) variant of SLC25A20 (O43772)
P30S (p.Pro30Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs780569251
- ClinGen CA352639036
- ClinVar RCV001058430
- ExAC rs780569251
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)