G610A (p.Gly610Ala) variant of ETFDH (Q16134)
G610A (p.Gly610Ala) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data and structural context.
G610A (p.Gly610Ala) variant details
- p.Gly610Ala
- gnomAD rs1213881654
- Uncertain significance
- Glutaric acidemia type 2C
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.70
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Glutaric acidemia type 2C)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available