V12L (p.Val12Leu) variant of POLH (DNA polymerase eta)
V12L (p.Val12Leu) in POLH (DNA polymerase eta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum variant type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- rs552779831
- ClinGen CA364272452
- ClinVar RCV001162328
- Ensembl rs552779831
- Uncertain significance
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.48
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum variant type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)