A31G (p.Ala31Gly) variant of PTPN11 (Q06124)
A31G (p.Ala31Gly) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of LEOPARD syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- rs2037994433
- ClinGen CA386776282
- ClinVar RCV001253203
- Ensembl rs2037994433
- Likely pathogenic
- LEOPARD syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (LEOPARD syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)