N72Y (p.Asn72Tyr) variant of POLG (DNA polymerase subunit gamma-1)
N72Y (p.Asn72Tyr) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
N72Y (p.Asn72Tyr) variant details
- p.Asn72Tyr
- ExAC rs777759802
- gnomAD rs777759802
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.96
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available