V65L (p.Val65Leu) variant of LRP2 (P98164)
V65L (p.Val65Leu) in LRP2 (P98164) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs1256042017
- ClinGen CA349173977
- ClinVar RCV002049366
- ClinVar RCV006362614
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0688
- CADD 0.01
- PolyPhen-2 0.08
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American 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)