V36N (p.Val36Asn) variant of POLH (DNA polymerase eta)
V36N (p.Val36Asn) in POLH (DNA polymerase eta) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
V36N (p.Val36Asn) variant details
- p.Val36Asn
- rs2127773185
- ClinGen CA450292384
- ClinVar RCV000006242
- ClinVar RCV005089189
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. (PMID 10385124)
- Cited in: hRAD30 mutations in the variant form of xeroderma pigmentosum. (PMID 10398605)