P31L (p.Pro31Leu) variant of VCAN (Versican core protein)
P31L (p.Pro31Leu) in VCAN (Versican core protein) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs776898982
- ClinGen CA3332387
- NCI-TCGA Cosmic COSV5409
- cosmic curated COSV54099
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.20
- CADD 16.50
- PolyPhen-2 0.50
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)