G24R (p.Gly24Arg) variant of CMA1 (Chymase)
G24R (p.Gly24Arg) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- rs140753864
- ClinGen CA7139085
- ClinVar RCV004203678
- ESP rs140753864
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.21
- ESM-1b 0.29
- AlphaMissense 0.39
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available