H17P (p.His17Pro) variant of ATM (Serine-protein kinase ATM)
H17P (p.His17Pro) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
H17P (p.His17Pro) variant details
- p.His17Pro
- rs1242444722
- ClinGen CA382519206
- ClinVar RCV003501931
- Uncertain significance
- Ataxia-telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.18
- MetaLR 0.11
- MetaSVM -0.98
- PolyPhen-2 0.06
- SIFT 0.09
- EVE 0.17
- ClinVar: Uncertain significance (Ataxia-telangiectasia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)