H17R (p.His17Arg) variant of ATM (Serine-protein kinase ATM)
H17R (p.His17Arg) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H17R (p.His17Arg) variant details
- p.His17Arg
- rs1242444722
- ClinGen CA382519213
- ClinVar RCV001181264
- ClinVar RCV001278349
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.18
- MetaLR 0.11
- MetaSVM -0.98
- CADD 20.10
- PolyPhen-2 0.06
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)