L61F (p.Leu61Phe) variant of MMAA (Q8IVH4)
L61F (p.Leu61Phe) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- gnomAD 4-145639322-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available