P20A (p.Pro20Ala) variant of MMAA (Q8IVH4)
P20A (p.Pro20Ala) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- ExAC rs762251343
- gnomAD rs762251343
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.60
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available