N2S (p.Asn2Ser) variant of SPAST (Spastin)
N2S (p.Asn2Ser) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD rs1230051542
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.19
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available