C91S (p.Cys91Ser) variant of SHMT2 (P34897)
C91S (p.Cys91Ser) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C91S (p.Cys91Ser) variant details
- p.Cys91Ser
- gnomAD 12-57231520-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.55
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Literature evidence available