N141S (p.Asn141Ser) variant of REN (Renin)
N141S (p.Asn141Ser) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N141S (p.Asn141Ser) variant details
- p.Asn141Ser
- rs776126542
- ClinGen CA1344940
- ClinVar RCV002599568
- ExAC rs776126542
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.30
- MetaLR 0.19
- MetaSVM -0.76
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available