P14P (p.Pro14Pro) variant of SMARCB1 (Q12824)
P14P (p.Pro14Pro) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P14P (p.Pro14Pro) variant details
- p.Pro14Pro
- rs1285048687
- gnomAD 22-23787211-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 15.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.633
- Literature evidence available