L36P (p.Leu36Pro) variant of SLC18A2 (Q05940)
L36P (p.Leu36Pro) in SLC18A2 (Q05940) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- rs2493527291
- ClinGen CA378507381
- ClinVar RCV002927231
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available