P24T (p.Pro24Thr) variant of GYS2 (P54840)
P24T (p.Pro24Thr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- gnomAD rs1197384808
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.17
- ESM-1b 0.89
- AlphaMissense 0.18
- CADD 21.90
- PolyPhen-2 0.28
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available