S28N (p.Ser28Asn) variant of PTPN11 (Q06124)
S28N (p.Ser28Asn) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- Ensembl rs2135856451
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.74
- MetaLR 0.84
- MetaSVM 0.81
- CADD 26.10
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available