L17S (p.Leu17Ser) variant of MMAA (Q8IVH4)
L17S (p.Leu17Ser) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- ExAC rs775224246
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available