N71S (p.Asn71Ser) variant of SLC22A1 (O15245)
N71S (p.Asn71Ser) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N71S (p.Asn71Ser) variant details
- p.Asn71Ser
- ESP rs149135239
- ExAC rs149135239
- TOPMed rs149135239
- gnomAD rs149135239
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.34
- CADD 21.70
- PolyPhen-2 0.76
- SIFT 0.06
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available