D6N (p.Asp6Asn) variant of SLC22A1 (O15245)
D6N (p.Asp6Asn) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- gnomAD 6-160121951-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.44
- CADD 23.70
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available