L65F (p.Leu65Phe) variant of MMAA (Q8IVH4)
L65F (p.Leu65Phe) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L65F (p.Leu65Phe) variant details
- p.Leu65Phe
- Ensembl rs1578877586
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available