S34N (p.Ser34Asn) variant of PTPN11 (Q06124)
S34N (p.Ser34Asn) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
S34N (p.Ser34Asn) variant details
- p.Ser34Asn
- Ensembl rs906966059
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.81
- MetaLR 0.95
- MetaSVM 1.08
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available