P8A (p.Pro8Ala) variant of REN (Renin)
P8A (p.Pro8Ala) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Renal tubular dysgenesis; not specified; Kidney disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- rs61746500
- ClinGen CA1345089
- ClinVar RCV000318852
- ClinVar RCV000375769
- Benign/Likely benign
- Renal tubular dysgenesis; not specified; Kidney disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.05
- CADD 8.42
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Benign/Likely benign (Renal tubular dysgenesis; not specified; Kidney disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.039)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)