K40Q (p.Lys40Gln) variant of POLH (DNA polymerase eta)
K40Q (p.Lys40Gln) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- TOPMed rs1315788120
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.18
- MetaSVM -0.80
- CADD 23.90
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available