P6R (p.Pro6Arg) variant of SMARCA4 (P51532)
P6R (p.Pro6Arg) in SMARCA4 (P51532) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- gnomAD 19-10984168-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.58
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available