K122N (p.Lys122Asn) variant of SLC22A8 (Organic anion transporter 3)
K122N (p.Lys122Asn) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K122N (p.Lys122Asn) variant details
- p.Lys122Asn
- cosmic curated COSV10026
- ExAC rs764926810
- TOPMed rs764926810
- gnomAD rs764926810
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.42
- MetaLR 0.40
- MetaSVM -0.35
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available