P7A (p.Pro7Ala) variant of ARID1A (O14497)
P7A (p.Pro7Ala) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD 1-26696417-TCGCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 26.50
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available