P41H (p.Pro41His) variant of PTPRC (P08575)
P41H (p.Pro41His) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P41H (p.Pro41His) variant details
- p.Pro41His
- gnomAD 1-198696733-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.18
- CADD 19.30
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available