R13L (p.Arg13Leu) variant of CHAMP1 (Q96JM3)
R13L (p.Arg13Leu) in CHAMP1 (Q96JM3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- rs138074590
- ESP rs138074590
- ExAC rs138074590
- TOPMed rs138074590
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.00
- MetaSVM -0.90
- CADD 21.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available