L3P (p.Leu3Pro) variant of MFN2 (Mitofusin-2)
L3P (p.Leu3Pro) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- gnomAD 1-11989176-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.62
- CADD 23.80
- PolyPhen-2 0.35
- SIFT 0.06
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available