K7N (p.Lys7Asn) variant of ETFDH (Q16134)
K7N (p.Lys7Asn) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glutaric acidemia type 2C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- TOPMed rs1232501551
- gnomAD rs1232501551
- Uncertain significance
- Glutaric acidemia type 2C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Glutaric acidemia type 2C)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available