V13L (p.Val13Leu) variant of UMOD (Uromodulin)
V13L (p.Val13Leu) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs762556085
- ClinGen CA7939546
- ClinVar RCV001295497
- ClinVar RCV003284143
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- 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)