V52M (p.Val52Met) variant of LCAT (P04180)
V52M (p.Val52Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar 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 0.84 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- rs763018899
- NCI-TCGA Cosmic COSV9986
- ExAC rs763018899
- gnomAD rs763018899
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.84
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available