P16L (p.Pro16Leu) variant of POLG (DNA polymerase subunit gamma-1)
P16L (p.Pro16Leu) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD rs1315209124
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.24
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available