P36H (p.Pro36His) variant of PKD1 (Polycystin-1)
P36H (p.Pro36His) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P36H (p.Pro36His) variant details
- p.Pro36His
- rs560049593
- ClinGen CA10587238
- ClinVar RCV000755607
- ClinVar RCV001254212
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.09
- CADD 22.30
- PolyPhen-2 0.58
- SIFT 0.08
- EBI: Benign (in dbSNP:rs560049593)
- UniProt: Benign (in dbSNP:rs560049593)
- Most common in the HGDP:FRENCH population (allele frequency 0.08)
- Structural context available
- Cited in: Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. (PMID 15772804)
- Cited in: Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. (PMID 18837007)