P61L (p.Pro61Leu) variant of PKD1 (Polycystin-1)
P61L (p.Pro61Leu) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in PKD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- rs886038369
- ClinGen CA10587237
- ClinVar RCV000245926
- ClinVar RCV000712592
- Benign
- in PKD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -0.90
- CADD 24.80
- PolyPhen-2 0.70
- SIFT 0.07
- EBI: Benign (in PKD1)
- UniProt: Benign (in PKD1)
- Most common in the Non-Finnish European population (allele frequency 0.0012)
- Structural context available
- Cited in: A complete mutation screen of the ADPKD genes by DHPLC. (PMID 11967008)
- Cited in: Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. (PMID 18837007)