V9F (p.Val9Phe) variant of POLH (DNA polymerase eta)
V9F (p.Val9Phe) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- rs781288440
- ClinGen CA3826861
- ClinVar RCV001162327
- ExAC rs781288440
- Uncertain significance
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.28
- MetaSVM -0.51
- CADD 24.90
- ClinVar: Uncertain significance (Xeroderma pigmentosum variant type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00026)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)