Q79K (p.Gln79Lys) variant of POLH (DNA polymerase eta)
Q79K (p.Gln79Lys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q79K (p.Gln79Lys) variant details
- p.Gln79Lys
- gnomAD rs1334379506
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.01
- CADD 19.80
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available