D54N (p.Asp54Asn) variant of SLC22A6 (Q4U2R8)
D54N (p.Asp54Asn) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- cosmic curated COSV64561
- 1000Genomes rs149011842
- ESP rs149011842
- ExAC rs149011842
- Missense
- Variant Prioritization Score for Impact Estimate 0.079
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.00
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available