K105Q (p.Lys105Gln) variant of PTPN2 (P17706)
K105Q (p.Lys105Gln) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K105Q (p.Lys105Gln) variant details
- p.Lys105Gln
- gnomAD rs1408071596
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available