P10L (p.Pro10Leu) variant of SLC25A20 (O43772)
P10L (p.Pro10Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs376837831
- ClinGen CA2387532
- ClinVar RCV001958201
- ClinVar RCV005278997
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.43
- MetaLR 0.50
- MetaSVM -0.18
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.09
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)