P30L (p.Pro30Leu) variant of SLC19A3 (Thiamine transporter 2)
P30L (p.Pro30Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD rs1321093527
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available