V43A (p.Val43Ala) variant of PTPRC (P08575)
V43A (p.Val43Ala) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- ExAC rs765181971
- gnomAD rs765181971
- Missense
- Variant Prioritization Score for Impact Estimate 0.0428
- REVEL 0.02
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available