P30H (p.Pro30His) variant of SMARCA4 (P51532)
P30H (p.Pro30His) in SMARCA4 (P51532) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P30H (p.Pro30His) variant details
- p.Pro30His
- Ensembl rs2145722893
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.52
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.61
- CADD 26.10
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available