P62T (p.Pro62Thr) variant of ELN (Elastin)
P62T (p.Pro62Thr) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P62T (p.Pro62Thr) variant details
- p.Pro62Thr
- gnomAD 7-74037727-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.21
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available