S11N (p.Ser11Asn) variant of ARID1A (O14497)
S11N (p.Ser11Asn) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- gnomAD 1-26696435-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.50
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available