H33P (p.His33Pro) variant of MMAA (Q8IVH4)
H33P (p.His33Pro) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H33P (p.His33Pro) variant details
- p.His33Pro
- gnomAD 4-145639237-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 4.13
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available