S148G (p.Ser148Gly) variant of RPA1 (P27694)
S148G (p.Ser148Gly) in RPA1 (P27694) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6. The record also includes population frequency data.
S148G (p.Ser148Gly) variant details
- p.Ser148Gly
- ExAC rs370337203
- TOPMed rs370337203
- gnomAD rs370337203
- Uncertain significance
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- Missense
- ClinVar: Uncertain significance (Pulmonary fibrosis and/or bone marrow failure, telomere-related,)
- UniProt: Uncertain significance
- Population evidence available