P20L (p.Pro20Leu) variant of ARID1A (O14497)
P20L (p.Pro20Leu) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD rs2080253986
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.95
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available