N30T (p.Asn30Thr) variant of SHMT2 (P34897)
N30T (p.Asn30Thr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N30T (p.Asn30Thr) variant details
- p.Asn30Thr
- TOPMed rs2037285975
- gnomAD rs2037285975
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.02
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available