Q51L (p.Gln51Leu) variant of POLG (DNA polymerase subunit gamma-1)
Q51L (p.Gln51Leu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q51L (p.Gln51Leu) variant details
- p.Gln51Leu
- gnomAD rs1478709276
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.31
- CADD 7.14
- PolyPhen-2 0.07
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available