H29L (p.His29Leu) variant of MMAA (Q8IVH4)
H29L (p.His29Leu) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H29L (p.His29Leu) variant details
- p.His29Leu
- ESP rs367809749
- ExAC rs367809749
- TOPMed rs367809749
- gnomAD rs367809749
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.64
- PolyPhen-2 0.01
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available