L38V (p.Leu38Val) variant of PKD1 (Polycystin-1)
L38V (p.Leu38Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- rs1030433875
- ClinGen CA276756563
- ClinVar RCV001358432
- ClinVar RCV003169775
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.00
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)