V15M (p.Val15Met) variant of FH (P07954)
V15M (p.Val15Met) in FH (P07954) 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 0.23 / 1. The record also includes population frequency data and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- rs1463008959
- ClinGen CA345442971
- ClinVar RCV003708924
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.35
- CADD 0.38
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available