R18S (p.Arg18Ser) variant of MMAA (Q8IVH4)
R18S (p.Arg18Ser) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- gnomAD 4-145639193-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 0.40
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available