L30F (p.Leu30Phe) variant of PTPN11 (Q06124)
L30F (p.Leu30Phe) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- gnomAD 12-112446351-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.03
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available