S48N (p.Ser48Asn) variant of SHMT2 (P34897)
S48N (p.Ser48Asn) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- gnomAD rs1267305911
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- CADD 19.70
- PolyPhen-2 0.14
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 0.0003)
- Structural context available