H29Y (p.His29Tyr) variant of MMAA (Q8IVH4)
H29Y (p.His29Tyr) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- Ensembl rs2126617078
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.50
- PolyPhen-2 0.08
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available