L11P (p.Leu11Pro) variant of ETFDH (Q16134)
L11P (p.Leu11Pro) in ETFDH (Q16134) 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 0.27 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs951587618
- ClinGen CA108842334
- ClinVar RCV003154470
- TOPMed rs951587618
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.26
- CADD 18.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available