D61V (p.Asp61Val) variant of PTPN11 (Q06124)
D61V (p.Asp61Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D61V (p.Asp61Val) variant details
- p.Asp61Val
- rs121918461
- ClinGen CA282073
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61004
- Pathogenic
- RASopathy; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.87
- CADD 28.10
- PolyPhen-2 0.82
- ClinVar: Pathogenic (RASopathy; Noonan syndrome 1)
- EBI: Pathogenic (in JMML)
- UniProt: Pathogenic (in JMML)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. (PMID 12717436)
- Cited in: Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide… (PMID 26742426)