M55V (p.Met55Val) variant of MMAA (Q8IVH4)
M55V (p.Met55Val) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
M55V (p.Met55Val) variant details
- p.Met55Val
- TOPMed rs1727711832
- gnomAD rs1727711832
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 8.20
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available