R23S (p.Arg23Ser) variant of PTPN11 (Q06124)
R23S (p.Arg23Ser) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R23S (p.Arg23Ser) variant details
- p.Arg23Ser
- gnomAD 12-112446330-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.60
- MetaLR 0.48
- MetaSVM -0.21
- CADD 23.70
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available