N71D (p.Asn71Asp) variant of SLC22A1 (O15245)
N71D (p.Asn71Asp) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N71D (p.Asn71Asp) variant details
- p.Asn71Asp
- ExAC rs757470546
- TOPMed rs757470546
- gnomAD rs757470546
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.74
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available