L99F (p.Leu99Phe) variant of CHAMP1 (Q96JM3)
L99F (p.Leu99Phe) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L99F (p.Leu99Phe) variant details
- p.Leu99Phe
- gnomAD 13-114324139-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available