P2S (p.Pro2Ser) variant of MMAA (Q8IVH4)
P2S (p.Pro2Ser) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- gnomAD 4-145639143-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available