S83F (p.Ser83Phe) variant of CHAMP1 (Q96JM3)
S83F (p.Ser83Phe) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S83F (p.Ser83Phe) variant details
- p.Ser83Phe
- gnomAD 13-114324090-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 25.10
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available