G14C (p.Gly14Cys) variant of ARID1A (O14497)
G14C (p.Gly14Cys) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD 1-26696443-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.72
- CADD 26.00
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available