S83F (p.Ser83Phe) variant of POLH (DNA polymerase eta)
S83F (p.Ser83Phe) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S83F (p.Ser83Phe) variant details
- p.Ser83Phe
- rs774770256
- ClinGen CA3826914
- ClinVar RCV001164355
- ExAC rs774770256
- Uncertain significance
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.20
- ESM-1b 0.69
- AlphaMissense 0.13
- MetaLR 0.20
- MetaSVM -0.78
- CADD 24.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum variant type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)