F30C (p.Phe30Cys) variant of ATM (Serine-protein kinase ATM)
F30C (p.Phe30Cys) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F30C (p.Phe30Cys) variant details
- p.Phe30Cys
- rs876658520
- ClinGen CA10582780
- cosmic curated COSV53730
- ClinVar RCV000230004
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.82
- MetaLR 0.38
- MetaSVM -0.23
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)