P23T (p.Pro23Thr) variant of LMNA (Prelamin-A/C)
P23T (p.Pro23Thr) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- cosmic curated COSV10888
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.10
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available