D104N (p.Asp104Asn) variant of REN (Renin)
D104N (p.Asp104Asn) in REN (Renin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RTD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D104N (p.Asp104Asn) variant details
- p.Asp104Asn
- rs868694193
- UniProt VAR 035088
- gnomAD rs868694193
- Pathogenic
- in RTD
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.89
- MetaLR 0.88
- MetaSVM 1.03
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in RTD)
- UniProt: Pathogenic (in RTD)
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (PMID 16116425)