A21T (p.Ala21Thr) variant of C2CD2L (O14523)
A21T (p.Ala21Thr) in C2CD2L (O14523) 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, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD 11-119107802-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available