P31R (p.Pro31Arg) variant of MITF (O75030)
P31R (p.Pro31Arg) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- Ensembl rs1559601734
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.24
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available