M39K (p.Met39Lys) variant of REN (Renin)
M39K (p.Met39Lys) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
M39K (p.Met39Lys) variant details
- p.Met39Lys
- rs1558245626
- ClinGen CA344342079
- ClinVar RCV000681790
- Ensembl rs1558245626
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.34
- MetaLR 0.14
- MetaSVM -0.95
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.47
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available