N48S (p.Asn48Ser) variant of PTPN11 (Q06124)
N48S (p.Asn48Ser) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- ExAC rs765495843
- gnomAD rs765495843
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.46
- MetaLR 0.74
- MetaSVM 0.31
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available