T35N (p.Thr35Asn) variant of SLC22A5 (O76082)
T35N (p.Thr35Asn) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T35N (p.Thr35Asn) variant details
- p.Thr35Asn
- ExAC rs759704527
- gnomAD rs759704527
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.17
- CADD 6.61
- PolyPhen-2 0.00
- SIFT 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available