L21V (p.Leu21Val) variant of PTPN2 (P17706)
L21V (p.Leu21Val) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- ExAC rs756085499
- gnomAD rs756085499
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.05
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available