M3V (p.Met3Val) variant of PTPRC (P08575)
M3V (p.Met3Val) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M3V (p.Met3Val) variant details
- p.Met3Val
- cosmic curated COSV10466
- ESP rs368929179
- ExAC rs368929179
- gnomAD rs368929179
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.32
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available