L40V (p.Leu40Val) variant of PRKCH (Protein kinase C eta type)
L40V (p.Leu40Val) in PRKCH (Protein kinase C eta type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- rs372517762
- ClinGen CA7214989
- ClinVar RCV004515152
- ESP rs372517762
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.83
- CADD 22.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available