P43S (p.Pro43Ser) variant of MMAA (Q8IVH4)
P43S (p.Pro43Ser) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- gnomAD rs1444473515
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.36
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available