N119S (p.Asn119Ser) variant of PRKAA1 (Q13131)
N119S (p.Asn119Ser) in PRKAA1 (Q13131) 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 and structural context.
N119S (p.Asn119Ser) variant details
- p.Asn119Ser
- ExAC rs773952820
- gnomAD rs773952820
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.80
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available