N30S (p.Asn30Ser) variant of SHMT2 (P34897)
N30S (p.Asn30Ser) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- gnomAD 12-57230854-AGCAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 26.20
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Literature evidence available