D5N (p.Asp5Asn) variant of SLC22A1 (O15245)
D5N (p.Asp5Asn) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- gnomAD 6-160121948-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.63
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available