L34R (p.Leu34Arg) variant of PTPN4 (P29074)
L34R (p.Leu34Arg) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L34R (p.Leu34Arg) variant details
- p.Leu34Arg
- gnomAD 2-119809954-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.30
- MetaSVM -0.62
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available