L49H (p.Leu49His) variant of MMAA (Q8IVH4)
L49H (p.Leu49His) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L49H (p.Leu49His) variant details
- p.Leu49His
- gnomAD 4-145639285-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available