S11P (p.Ser11Pro) variant of CHAMP1 (Q96JM3)
S11P (p.Ser11Pro) 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.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- gnomAD 13-114323873-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available