S75P (p.Ser75Pro) variant of CHAMP1 (Q96JM3)
S75P (p.Ser75Pro) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S75P (p.Ser75Pro) variant details
- p.Ser75Pro
- gnomAD 13-114324065-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.16
- MetaSVM -0.81
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available