L20H (p.Leu20His) variant of SLC22A5 (O76082)
L20H (p.Leu20His) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in CDSP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L20H (p.Leu20His) variant details
- p.Leu20His
- rs144020613
- ClinGen CA342609
- ClinVar RCV000022299
- ClinVar RCV000838010
- Benign
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.49
- CADD 24.40
- PolyPhen-2 0.68
- SIFT 0.16
- EBI: Benign (in CDSP)
- UniProt: Benign (in CDSP)
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)