V27D (p.Val27Asp) variant of ATM (Serine-protein kinase ATM)
V27D (p.Val27Asp) 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 0.33 / 1. The record also includes published literature and structural context.
V27D (p.Val27Asp) variant details
- p.Val27Asp
- rs2078817440
- ClinGen CA382519507
- ClinVar RCV001056041
- Ensembl rs2078817440
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.16
- MetaLR 0.15
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.46
- EVE 0.15
- 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)