L8P (p.Leu8Pro) variant of SLC19A3 (Thiamine transporter 2)
L8P (p.Leu8Pro) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- cosmic curated COSV51451
- gnomAD rs1472451485
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.04
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available