p.Arg13 Pro14del variant of SMARCA4 (P51532)
p.Arg13 Pro14del in SMARCA4 (P51532) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg13 Pro14del variant details
- gnomAD 19-10984184-TCCTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available