V114M (p.Val114Met) variant of LCAT (P04180)
V114M (p.Val114Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Cardiovascular phenotype; Norum disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V114M (p.Val114Met) variant details
- p.Val114Met
- rs35673026
- ClinGen CA8121104
- ClinVar RCV001117249
- ClinVar RCV001469271
- Benign/Likely benign
- not provided; Cardiovascular phenotype; Norum disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.69
- CADD 11.90
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Benign/Likely benign (not provided; Cardiovascular phenotype; Norum disease)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.03)
- Structural context available