P21R (p.Pro21Arg) variant of MITF (O75030)
P21R (p.Pro21Arg) 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, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- gnomAD 3-69739659-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available