V227A (p.Val227Ala) variant of RPA1 (P27694)
V227A (p.Val227Ala) 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 0.37 / 1. The record also includes population frequency data and published literature.
V227A (p.Val227Ala) variant details
- p.Val227Ala
- rs570041689
- ClinGen CA8276021
- ClinVar RCV001843385
- UniProt VAR 086965
- Pathogenic
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.45
- MetaLR 0.11
- MetaSVM -1.09
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.56
- ClinVar: Pathogenic (Pulmonary fibrosis and/or bone marrow failure, telomere-related,)
- EBI: Pathogenic (in PFBMFT6)
- UniProt: Pathogenic (in PFBMFT6)
- Population evidence available
- 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)