P30P (p.Pro30Pro) variant of SMARCA4 (P51532)
P30P (p.Pro30Pro) in SMARCA4 (P51532) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P30P (p.Pro30Pro) variant details
- p.Pro30Pro
- rs2145722926
- gnomAD 19-10984241-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 9.57
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available