P20L (p.Pro20Leu) variant of MMAA (Q8IVH4)
P20L (p.Pro20Leu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD 4-145639198-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available