E240K (p.Glu240Lys) variant of RPA1 (P27694)
E240K (p.Glu240Lys) in RPA1 (P27694) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature.
E240K (p.Glu240Lys) variant details
- p.Glu240Lys
- rs916648829
- ClinGen CA397558987
- ClinVar RCV001843384
- UniProt VAR 086966
- Pathogenic
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.71
- MetaLR 0.07
- MetaSVM -1.10
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.54
- ClinVar: Pathogenic (Pulmonary fibrosis and/or bone marrow failure, telomere-related,)
- EBI: Pathogenic (in PFBMFT6)
- UniProt: Pathogenic (in PFBMFT6)
- Cited in: Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. (PMID 34767620)
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)