D65H (p.Asp65His) variant of SHMT2 (P34897)
D65H (p.Asp65His) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D65H (p.Asp65His) variant details
- p.Asp65His
- ExAC rs745706463
- gnomAD rs745706463
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available