N53K (p.Asn53Lys) variant of SLC19A3 (Thiamine transporter 2)
N53K (p.Asn53Lys) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N53K (p.Asn53Lys) variant details
- p.Asn53Lys
- gnomAD rs1412270295
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 17.20
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available